Linked Data
ClinVar Variation Id:
255733
dbSNP Id:
rs372637021
ExAC:
12:103232934 C / A
gnomAD v2:
12-103232934-C-A
gnomAD v3:
12-102839156-C-A
gnomAD v4:
12-102839156-C-A
PubMed:
PMID:26210745
ERepo:
CA6748669/MONDO:0009861/006
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000012.12:g.102839156C>A , CM000674.2:g.102839156C>A | GRCh38 |
| NC_000012.11:g.103232934C>A , CM000674.1:g.103232934C>A | GRCh37 |
| NC_000012.10:g.101757064C>A | NCBI36 |
| NG_008690.1:g.83447G>T | |
| NG_008690.2:g.124255G>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000553106.6:c.*19G>T MANE Select | ENSP00000448059.1:n.*19G>T | |
| ENST00000307000.7:c.*19G>T | ENSP00000303500.2:n.*19G>T | |
| ENST00000551114.2:n.1040G>T | ||
| ENST00000553106.5:c.*19G>T | ENSP00000448059.1:n.*19G>T | |
| ENST00000635528.1:n.893G>T | ||
| NM_000277.1:c.*19G>T | NP_000268.1:n.*19G>T | |
| XM_011538422.1:c.*19G>T | XP_011536724.1:n.*19G>T | |
| NM_000277.2:c.*19G>T | NP_000268.1:n.*19G>T | |
| NM_001354304.1:c.*19G>T | NP_001341233.1:n.*19G>T | |
| NM_000277.3:c.*19G>T MANE Select | NP_000268.1:n.*19G>T | |
| NM_001354304.2:c.*19G>T | NP_001341233.1:n.*19G>T |